Program for Inherited Metabolic Diseases
The Metabolic Genetics Faculty Practice at Mount Sinai Health System specializes in providing advanced clinical and diagnostic services for the treatment of children and adults affected by inborn errors of metabolism. Complete diagnostic evaluations, comprehensive testing, interpretation of test results, and long-term medical and nutritional management are provided.
The Medical Genetics Faculty Practice is an approved New York State Newborn Screening Referral Center for inherited metabolic diseases. In addition to being one of the largest Newborn Screening Referral Centers in the United States, the Metabolic Genetics Faculty Practice is the leading referral center in the region for the evaluation of patients with suspected inborn errors of metabolism. Our medical geneticists are committed to providing outstanding medical care for patients with inherited metabolic diseases, and to researching these disorders, with the goal of developing new, improved therapies for these conditions. Every medical geneticist in the Metabolic Genetics Faculty Practice is a member of the staff of The Mount Sinai Hospital and of the faculty of Icahn School of Medicine. Mount Sinai's Department of Genetics and Genomic Sciences is one of the largest in the country dedicated to the understanding, prevention, treatment, and cure of genetic diseases and birth defects.
Who should be seen for a metabolic evaluation?
Many of our patients are referred to us through the New York State Newborn Screening Program. Other patients are referred because they have specific signs or symptoms that suggest an inherited metabolic disease. These symptoms can include hypotonia (abnormal loss of muscle tone), failure to thrive, developmental delay, seizures and other neurologic disorders, and certain abnormal blood tests.
About Newborn Screening
All newborn babies are screened shortly after birth to identify diseases that can be harmful or life-threatening if they are not picked up and treated early.
Newborn screening tests take place in the hospital when your baby is about one day old. A few drops of blood are drawn from the baby’s heel and sent to the state lab. The samples are labeled with your baby’s name, your pediatrician’s name, and your family’s contact information so that you can be notified if the screen is positive.
Each sample is tested for more than 40 diseases that can affect your baby’s health. If the screening test is abnormal, the state will notify the nearest Newborn Screening Referral Center. For all babies born in Manhattan, Brooklyn, Staten Island, and Queens, the nearest referral center for inherited metabolic diseases is Mount Sinai.
We understand that it is very frightening to receive a phone call about your newborn baby. Please remember that additional screening must be repeated at Mount Sinai to see if your baby truly has a metabolic disease.
Sometimes, the baby’s newborn screen test is only slightly abnormal. In that case, the state newborn screening lab will ask the baby’s pediatrician to repeat the newborn screening test. If it remains abnormal, then the baby will be referred to Mount Sinai.
Disorders that are treated in the PIMD at Mount Sinai include:
- Argininosuccinic Acid Lyase deficiency
- Beta ketothiolase deficiency
- Biotinidase deficiency
- Carnitine cycle disorders
- Carbamylphosphate synthetase deficiency (CPS-1)
- Carnitine palmitoyl transferase 1 deficiency (CPT-1)
- Carnitine palmitoyl transferase 2 deficiency (CPT2)
- Carnitine translocase deficiency
- Cobalamin disorders (cbl a, b, c, etc.)
- Developmental delay
- 2,4 Dienyl CoA reductase deficiency
- Failure to thrive
- Fatty Acid Oxidation defects
- Glutaric acidemia types 1 and 2
- Glutathione synthetase deficiency
- Glycogen storage diseases
- Holocarboxylase synthetase deficiency
- Hyperammonemia, homocitrullinemia, hyperornithinemia syndrome (HHH)
- Isovaleric acidemia
- Krabbe disease
- Long chain hydroxyl acyl CoA dehydrogenase deficiency (LCHAD)
- Lysosomal Storage Diseases
- Maple syrup urine disease
- Malonic aciduria
- Medium chain acyl CoA dehydrogenase deficiency (MCAD)
- Metabolic acidosis
- 3-Methylcrotonyl CoA carboxylase deficiency
- Methylene tetrahydrofolate reductase deficiency (MTHFR)
- Methylmalonic acidemia
- Mitochondrial diseases
- Multiple Acyl CoA dehydrogenase deficiency
- Niemann-Pick disease types A, B, and C
- Organic acidemias
- Ornithine carbamylase deficiency
- Pompe disease
- Propionic acidemia
- Seizure disorders
- Short chain acyl CoA dehydrogenase deficiency (SCAD)
- Tay Sachs Disease
- Tetrahydrobiopterin deficiencies
- Trifunctional protein deficiency
- Urea cycle defects
- Very long chain acyl CoA dehydrogenase deficiency (VLCAD)
Our doctors accept most major insurance plans. Testing will be coordinated, as far as possible, through insurance plans.
To schedule an appointment, please call 212-241-6947.
The Mount Sinai Health System
1428 Madison Ave (at 99th Street)
Atran Building, 1st Floor
New York, NY 10029
Division of Medical Genetics
Department of Genetics and Genomic Sciences
One Gustave L. Levy Place
New York, NY 10029-6574
9am to 5pm, Monday through Friday
Director of the Program for Inherited Metabolic Diseases, Melissa Wasserstein, MD, discusses the simple blood test used for screening for metabolic disorders. Learn more
How two moms, with sons born 20 years apart, learned to cope with the diagnosis of phenylketonuria (PKU): A video from the Save Babies Through Screening Foundation. Watch video